Resultados da busca - Annick Labarre‐Vila
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1
A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia por Nicole Monnier, Ana Ferreiro, Isabelle Marty, Annick Labarre‐Vila, Paulette Mezin, Joël Lunardi
Publicado em 2003Artigo -
2
Generalised sensory system abnormalities in amyotrophic lateral sclerosis: a European multicentre study por Kirsten Pugdahl, Anders Fuglsang‐Frederiksen, Mamede de Carvalho, Birger Johnsen, P R W Fawcett, Annick Labarre‐Vila, Rocco Liguori, W. Nix, IS Schofield
Publicado em 2006Artigo
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Assuntos relacionados
Internal medicine
Medicine
Pathology
Amyotrophic lateral sclerosis
Biology
Biopsy
Central core disease
Congenital myopathy
Disease
Dorsal root ganglion
Electrophysiology
Endocrinology
Endoplasmic reticulum
Gene
Genetics
Malignant hyperthermia
Missense mutation
Muscle biopsy
Mutation
Myopathy
Neuroscience
Polyneuropathy
Psychology
RYR1
Ryanodine receptor
Sensory nerve
Sensory system
Skeletal muscle